Variant report

Variant	rs1665302
Chromosome Location	chr2:114387185-114387186
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 11 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1040646	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1665301	0.87[ASN][1000 genomes]
rs1667103	0.86[ASN][1000 genomes]
rs1739509	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1964835	0.89[ASN][1000 genomes]
rs55959208	0.86[ASN][1000 genomes]
rs60533451	0.88[ASN][1000 genomes]
rs793068	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs793077	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2759085	chr2:114074949-114428678	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
2	nsv428062	chr2:114251945-114428678	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
3	esv2757827	chr2:114253780-114428678	Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
4	nsv582714	chr2:114280860-114411190	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
5	esv1807730	chr2:114312991-114398343	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
6	nsv1001195	chr2:114362003-114506330	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	nsv508163	chr2:114364609-114431004	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv979108	chr2:114381866-114388301	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv961495	chr2:114381866-114415806	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:11)

SNP	Gene	Cis/trans	Tissue	Source
rs1665302	RPL23AP7	cis	Whole Blood	GTEx
rs1665302	RPL23AP7	cis	Esophagus Muscularis	GTEx
rs1665302	RPL23AP7	cis	Muscle Skeletal	GTEx
rs1665302	RPL23AP7	cis	Thyroid	GTEx
rs1665302	RPL23AP7	cis	Artery Tibial	GTEx
rs1665302	RPL23AP7	cis	Artery Aorta	GTEx
rs1665302	RPL23AP7	cis	Nerve Tibial	GTEx
rs1665302	RPL23AP7	cis	Adipose Subcutaneous	GTEx
rs1665302	RPL23AP7	cis	lung	GTEx
rs1665302	RPL23AP7	cis	Skin Sun Exposed Lower leg	GTEx
rs1665302	RPL23AP7	cis	Esophagus Mucosa	GTEx

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114381000-114390400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr2:114384600-114392000	Weak transcription	Fetal Brain Male	brain
3	chr2:114385200-114389000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr2:114385200-114393200	Weak transcription	Aorta	Aorta
5	chr2:114385400-114387400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr2:114385400-114387600	Weak transcription	Fetal Muscle Trunk	muscle
7	chr2:114385400-114387600	Weak transcription	Fetal Thymus	thymus
8	chr2:114385400-114387600	Weak transcription	NH-A	brain
9	chr2:114385400-114387800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr2:114385400-114388200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr2:114385400-114388400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr2:114385400-114388400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr2:114385400-114388400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr2:114385400-114388800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr2:114385400-114388800	Weak transcription	Fetal Intestine Small	intestine
16	chr2:114385400-114389600	Weak transcription	HSMM	muscle
17	chr2:114385400-114390200	Weak transcription	Primary B cells from peripheral blood	blood
18	chr2:114385400-114390400	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr2:114385400-114390800	Weak transcription	Primary B cells from cord blood	blood
20	chr2:114385400-114391000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr2:114385400-114391200	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr2:114385400-114391600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr2:114385400-114391600	Weak transcription	Esophagus	oesophagus
24	chr2:114385400-114391800	Weak transcription	Right Ventricle	heart
25	chr2:114385400-114392400	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr2:114385400-114392600	Weak transcription	Ovary	ovary
27	chr2:114385400-114392800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr2:114385400-114392800	Weak transcription	Placenta	Placenta
29	chr2:114385400-114392800	Weak transcription	Osteobl	bone
30	chr2:114385400-114393000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr2:114385400-114393000	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr2:114385400-114393000	Weak transcription	Brain Substantia Nigra	brain
33	chr2:114385400-114393200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr2:114385400-114393200	Weak transcription	NHDF-Ad	bronchial
35	chr2:114385400-114393400	Weak transcription	Pancreas	Pancrea
36	chr2:114385400-114393800	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr2:114385400-114394000	Weak transcription	Primary T cells from cord blood	blood
38	chr2:114385400-114394600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr2:114385400-114394800	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr2:114385400-114395000	Weak transcription	Thymus	Thymus
41	chr2:114385800-114387600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr2:114385800-114387800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr2:114385800-114387800	Weak transcription	Lung	lung
44	chr2:114385800-114388400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr2:114385800-114388800	Weak transcription	HUVEC	blood vessel
46	chr2:114385800-114389000	Weak transcription	Brain Germinal Matrix	brain
47	chr2:114385800-114390400	Weak transcription	Left Ventricle	heart
48	chr2:114385800-114391200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr2:114385800-114391400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr2:114385800-114391600	Weak transcription	Psoas Muscle	Psoas

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